Allele Registry

Canonical Allele Identifier: PA2826253960

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000288663

RCV002261049

RCV003910185

ClinVar Variation:

314753

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Gly310Arg	CA7297185 NM_001201401.2:c.928G>A CA390747472 NM_001201401.2:c.928G>C